Clinical Manifestations and Outcomes of Activated Phosphoinositide 3-Kinase δ Syndrome from the USIDNET Cohort

• Published in: The journal of allergy and clinical immunology in practice (Cambridge, MA) Vol. 9; no. 11; p. 4095
• Main Authors: Oh, Jessica, Garabedian, Elizabeth, Fuleihan, Ramsay, Cunningham-Rundles, Charlotte
• Format: Journal Article
• Language: English
• Published: United States 01.11.2021
• Subjects: Class I Phosphatidylinositol 3-Kinases - genetics; Cohort Studies; Humans; Immunologic Deficiency Syndromes - diagnosis; Immunologic Deficiency Syndromes - epidemiology; Immunologic Deficiency Syndromes - genetics; Mutation; Phosphatidylinositol 3-Kinase; Phosphatidylinositol 3-Kinases; Combined immunodeficiency; Activated phosphoinositide 3-kinase δ syndrome; Phosphoinositide 3-kinase δ

Activated phosphoinositide 3-kinase δ syndrome is a combined primary immunodeficiency characterized by gain-of-function mutations in PIK3CD and PIK3R1. Activated phosphoinositide 3-kinase δ syndrome demonstrates a large range of phenotypes including respiratory and herpesvirus infections, lymphadeno...